• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

一名25岁患有遗传性血色素沉着症的女性,饮酒量极少却发生暴发性肝衰竭:一例罕见病例。

Fulminant Hepatic Failure With Minimal Alcohol Consumption in a 25-Year-Old Female With Hereditary Hemochromatosis: A Rare Case.

作者信息

Alvi Ali Tariq, Santiago Luis E, Nadeem Zahid, Chaudhry Ali

机构信息

Internal Medicine, HCA Florida Northwest Hospital, Margate, USA.

Critical Care, HCA Florida Northwest Hospital, Margate, USA.

出版信息

Cureus. 2023 Sep 1;15(9):e44544. doi: 10.7759/cureus.44544. eCollection 2023 Sep.

DOI:10.7759/cureus.44544
PMID:37790043
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10544746/
Abstract

Hereditary hemochromatosis (HH) is an inherited disorder in which organ damage and other clinical manifestations are commonly seen in patients with a homozygous mutation involving of the gene, causing increased iron absorption in the intestine. The liver is the primary site of iron deposition, and excessive iron overload can eventually lead to hepatic cirrhosis. Patients who drink significant amounts of alcohol are more likely to develop cirrhosis, and in females, it is commonly seen after menopause. We describe a young female with hereditary hemochromatosis who developed fulminant hepatic failure with minimal alcohol consumption at age 25.

摘要

遗传性血色素沉着症(HH)是一种遗传性疾病,纯合子突变涉及该基因的患者常出现器官损伤和其他临床表现,导致肠道铁吸收增加。肝脏是铁沉积的主要部位,铁过载最终可导致肝硬化。大量饮酒的患者更易发生肝硬化,女性患者常在绝经后出现。我们描述了一名患有遗传性血色素沉着症的年轻女性,她在25岁时仅少量饮酒就发生了暴发性肝衰竭。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/98eb083c06a9/cureus-0015-00000044544-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/d51c751bde0c/cureus-0015-00000044544-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/99f97a052c48/cureus-0015-00000044544-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/98eb083c06a9/cureus-0015-00000044544-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/d51c751bde0c/cureus-0015-00000044544-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/99f97a052c48/cureus-0015-00000044544-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f637/10544746/98eb083c06a9/cureus-0015-00000044544-i03.jpg

相似文献

1
Fulminant Hepatic Failure With Minimal Alcohol Consumption in a 25-Year-Old Female With Hereditary Hemochromatosis: A Rare Case.一名25岁患有遗传性血色素沉着症的女性,饮酒量极少却发生暴发性肝衰竭:一例罕见病例。
Cureus. 2023 Sep 1;15(9):e44544. doi: 10.7759/cureus.44544. eCollection 2023 Sep.
2
Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).圣保罗州一家巴西大学医院的遗传性血色素沉着症(1990 - 2000年)
Genet Mol Res. 2005 Mar 31;4(1):31-8.
3
Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis.肝铁过载:用于遗传性血色素沉着症诊断的直接HFE(HLA-H)突变分析与定量铁测定法
Am J Clin Pathol. 1998 May;109(5):577-84. doi: 10.1093/ajcp/109.5.577.
4
Alcohol Use Unmasking Heterozygous Hereditary Hemochromatosis.饮酒揭示杂合子遗传性血色素沉着症
Cureus. 2024 Jan 16;16(1):e52364. doi: 10.7759/cureus.52364. eCollection 2024 Jan.
5
HFE genotype in patients with hemochromatosis and other liver diseases.血色素沉着症及其他肝脏疾病患者的HFE基因分型
Ann Intern Med. 1999 Jun 15;130(12):953-62. doi: 10.7326/0003-4819-130-12-199906150-00002.
6
Hemochromatosis and alcoholic liver disease.血色素沉着症与酒精性肝病。
Alcohol. 2003 Jun;30(2):131-6. doi: 10.1016/s0741-8329(03)00128-9.
7
Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report.一名携带 HFE 基因 H63D 突变纯合子的斯里兰卡人血清铁蛋白一过性升高:病例报告。
J Med Case Rep. 2020 Jul 9;14(1):93. doi: 10.1186/s13256-020-02428-3.
8
[Hereditary and acquired iron overload].[遗传性和获得性铁过载]
Nephrol Ther. 2006 Nov;2 Suppl 5:S304-12.
9
Hereditary hemochromatosis in liver transplantation.肝移植中的遗传性血色素沉着症。
Liver Transpl Surg. 1999 Jan;5(1):50-6. doi: 10.1002/lt.500050109.
10
Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases.遗传性血色素沉着症的基因型与表型之间的相关性:61例分析。
Blood Cells Mol Dis. 1997 Aug;23(2):314-20. doi: 10.1006/bcmd.1997.0148.

引用本文的文献

1
Hemochromatosis-How Not to Overlook and Properly Manage "Iron People"-A Review.血色素沉着症——如何不忽视并妥善管理“铁人”——一篇综述
J Clin Med. 2024 Jun 23;13(13):3660. doi: 10.3390/jcm13133660.

本文引用的文献

1
ACG Clinical Guideline: Hereditary Hemochromatosis.ACG 临床指南:遗传性血色素沉着症。
Am J Gastroenterol. 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315.
2
Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.血色病中的肝硬化:368 名 HFE p.C282Y 纯合子的独立危险因素。
Ann Hepatol. 2018 Aug 24;17(5):871-879. doi: 10.5604/01.3001.0012.3169.
3
Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.
遗传性血色素沉着症的临床外显率:HFE C282Y 纯合子发生严重肝脏疾病的累积发病率估计。
Genet Med. 2018 Apr;20(4):383-389. doi: 10.1038/gim.2017.121. Epub 2017 Aug 3.
4
Hereditary hemochromatosis.遗传性血色素沉着症。
Am Fam Physician. 2013 Feb 1;87(3):183-90.
5
Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis.过量饮酒会大大增加遗传性血色素沉着症患者患肝硬化的几率。
Gastroenterology. 2002 Feb;122(2):281-9. doi: 10.1053/gast.2002.30992.
6
Metals, oxidative stress, and hepatic fibrogenesis.金属、氧化应激与肝纤维化形成
Semin Liver Dis. 1996 Feb;16(1):13-30. doi: 10.1055/s-2007-1007215.
7
Metal-induced hepatotoxicity.金属诱导的肝毒性。
Semin Liver Dis. 1996 Feb;16(1):3-12. doi: 10.1055/s-2007-1007214.
8
Association between alcoholism and increased hepatic iron stores.酗酒与肝脏铁储备增加之间的关联。
Alcohol Clin Exp Res. 1988 Feb;12(1):7-13. doi: 10.1111/j.1530-0277.1988.tb00124.x.
9
Long-term survival analysis in hereditary hemochromatosis.遗传性血色素沉着症的长期生存分析
Gastroenterology. 1991 Aug;101(2):368-72. doi: 10.1016/0016-5085(91)90013-b.